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Mendeliome

Gene: MAPRE2

Green List (high evidence)

MAPRE2 (microtubule associated protein RP/EB family member 2)
EnsemblGeneIds (GRCh38): ENSG00000166974
EnsemblGeneIds (GRCh37): ENSG00000166974
OMIM: 605789, Gene2Phenotype
MAPRE2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Folding of excess skin leads to ringed creases, primarily of the limbs. Affected individuals also have intellectual disability, cleft palate, and dysmorphic features. ID is more severe in those with bi-allelic variants.
Created: 7 Mar 2020, 5:22 a.m. | Last Modified: 7 Mar 2020, 5:22 a.m.
Panel Version: 0.1653

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Symmetric circumferential skin creases, congenital, 2, MIM# 616734

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Symmetric circumferential skin creases, congenital, 2, MIM# 616734
OMIM
605789
Clinvar variants
Variants in MAPRE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mapre2 has been classified as Green List (High Evidence).

7 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAPRE2 were changed from to Symmetric circumferential skin creases, congenital, 2, MIM# 616734

7 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAPRE2 were set to

7 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAPRE2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAPRE2 was added gene: MAPRE2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAPRE2 was set to Unknown